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GWAS 发现 15 年:实现承诺。

15 years of GWAS discovery: Realizing the promise.

机构信息

Department of Psychiatry, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands.

Institute for Molecular Bioscience, University of Queensland, Brisbane, QLD, Australia.

出版信息

Am J Hum Genet. 2023 Feb 2;110(2):179-194. doi: 10.1016/j.ajhg.2022.12.011. Epub 2023 Jan 11.

Abstract

It has been 15 years since the advent of the genome-wide association study (GWAS) era. Here, we review how this experimental design has realized its promise by facilitating an impressive range of discoveries with remarkable impact on multiple fields, including population genetics, complex trait genetics, epidemiology, social science, and medicine. We predict that the emergence of large-scale biobanks will continue to expand to more diverse populations and capture more of the allele frequency spectrum through whole-genome sequencing, which will further improve our ability to investigate the causes and consequences of human genetic variation for complex traits and diseases.

摘要

全基因组关联研究(GWAS)时代已经到来 15 年了。在这里,我们回顾了这种实验设计是如何通过促进一系列令人印象深刻的发现来实现其承诺的,这些发现对包括群体遗传学、复杂性状遗传学、流行病学、社会科学和医学在内的多个领域产生了重大影响。我们预测,大型生物库的出现将继续扩展到更多样化的人群,并通过全基因组测序捕捉更多的等位基因频率谱,这将进一步提高我们研究复杂性状和疾病人类遗传变异的原因和后果的能力。

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